Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era

Objectives To evaluate children with cystic fibrosis (CF) who had a late diagnosis of CF (LD-CF) despite newborn screening (NBS) and compare their clinical outcomes with children diagnosed after a positive NBS (NBS-CF). Study design A retrospective review of patients with LD-CF in New South Wales, A...

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Published inThe Journal of pediatrics Vol. 181; pp. 137 - 145.e1
Main Authors Coffey, Michael J., BMed, MD, Whitaker, Viola, Gentin, Natalie, MBBCh, FRACP, Junek, Rosie, DCH, Shalhoub, Carolyn, BSc(Hons), GradDip(Counselling), Nightingale, Scott, BMed(Hons), MClinEpid, FRACP, Hilton, Jodi, BMed, FRACP, Wiley, Veronica, PhD, Wilcken, Bridget, MD, FRACP, Gaskin, Kevin J., MD, FRACP, Ooi, Chee Y., MBBS, FRACP, PhD
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.02.2017
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Abstract Objectives To evaluate children with cystic fibrosis (CF) who had a late diagnosis of CF (LD-CF) despite newborn screening (NBS) and compare their clinical outcomes with children diagnosed after a positive NBS (NBS-CF). Study design A retrospective review of patients with LD-CF in New South Wales, Australia, from 1988 to 2010 was performed. LD-CF was defined as NBS-negative (negative immunoreactive trypsinogen or no F508del ) or NBS-positive but discharged following sweat chloride < 60 mmol/L. Cases of LD-CF were each matched 1:2 with patients with NBS-CF for age, sex, hospital, and exocrine pancreatic status. Results A total of 45 LD-CF cases were identified (39 NBS-negative and 6 NBS-positive) with 90 NBS-CF matched controls. Median age (IQR) of diagnosis for LD-CF and NBS-CF was 1.35 (0.4-2.8) and 0.12 (0.03-0.2) years, respectively ( P  <   .0001). Estimated incidence of LD-CF was 1 in 45 000 live births. Compared with NBS-CF, LD-CF had more respiratory manifestations at time of diagnosis (66% vs 4%; P  <   .0001), a higher rate of hospital admission per year for respiratory illness (0.49 vs 0.2; P  = .0004), worse lung function (forced expiratory volume in 1 second percentage of predicted, 0.88 vs 0.97; P  = .007), and higher rates of chronic colonization with Pseudomonas aeruginosa (47% vs 24%; P  = .01). The LD-CF cohort also appeared to be shorter than NBS-CF controls (mean height z -score −0.65 vs −0.03; P  = .02). Conclusions LD-CF, despite NBS, seems to be associated with worse health before diagnosis and worse later growth and respiratory outcomes, thus providing further support for NBS programs for CF.
AbstractList Objectives To evaluate children with cystic fibrosis (CF) who had a late diagnosis of CF (LD-CF) despite newborn screening (NBS) and compare their clinical outcomes with children diagnosed after a positive NBS (NBS-CF). Study design A retrospective review of patients with LD-CF in New South Wales, Australia, from 1988 to 2010 was performed. LD-CF was defined as NBS-negative (negative immunoreactive trypsinogen or no F508del ) or NBS-positive but discharged following sweat chloride < 60 mmol/L. Cases of LD-CF were each matched 1:2 with patients with NBS-CF for age, sex, hospital, and exocrine pancreatic status. Results A total of 45 LD-CF cases were identified (39 NBS-negative and 6 NBS-positive) with 90 NBS-CF matched controls. Median age (IQR) of diagnosis for LD-CF and NBS-CF was 1.35 (0.4-2.8) and 0.12 (0.03-0.2) years, respectively ( P  <   .0001). Estimated incidence of LD-CF was 1 in 45 000 live births. Compared with NBS-CF, LD-CF had more respiratory manifestations at time of diagnosis (66% vs 4%; P  <   .0001), a higher rate of hospital admission per year for respiratory illness (0.49 vs 0.2; P  = .0004), worse lung function (forced expiratory volume in 1 second percentage of predicted, 0.88 vs 0.97; P  = .007), and higher rates of chronic colonization with Pseudomonas aeruginosa (47% vs 24%; P  = .01). The LD-CF cohort also appeared to be shorter than NBS-CF controls (mean height z -score −0.65 vs −0.03; P  = .02). Conclusions LD-CF, despite NBS, seems to be associated with worse health before diagnosis and worse later growth and respiratory outcomes, thus providing further support for NBS programs for CF.
To evaluate children with cystic fibrosis (CF) who had a late diagnosis of CF (LD-CF) despite newborn screening (NBS) and compare their clinical outcomes with children diagnosed after a positive NBS (NBS-CF). A retrospective review of patients with LD-CF in New South Wales, Australia, from 1988 to 2010 was performed. LD-CF was defined as NBS-negative (negative immunoreactive trypsinogen or no F508del) or NBS-positive but discharged following sweat chloride < 60 mmol/L. Cases of LD-CF were each matched 1:2 with patients with NBS-CF for age, sex, hospital, and exocrine pancreatic status. A total of 45 LD-CF cases were identified (39 NBS-negative and 6 NBS-positive) with 90 NBS-CF matched controls. Median age (IQR) of diagnosis for LD-CF and NBS-CF was 1.35 (0.4-2.8) and 0.12 (0.03-0.2) years, respectively (P < .0001). Estimated incidence of LD-CF was 1 in 45 000 live births. Compared with NBS-CF, LD-CF had more respiratory manifestations at time of diagnosis (66% vs 4%; P < .0001), a higher rate of hospital admission per year for respiratory illness (0.49 vs 0.2; P = .0004), worse lung function (forced expiratory volume in 1 second percentage of predicted, 0.88 vs 0.97; P = .007), and higher rates of chronic colonization with Pseudomonas aeruginosa (47% vs 24%; P = .01). The LD-CF cohort also appeared to be shorter than NBS-CF controls (mean height z-score −0.65 vs −0.03; P = .02). LD-CF, despite NBS, seems to be associated with worse health before diagnosis and worse later growth and respiratory outcomes, thus providing further support for NBS programs for CF.
To evaluate children with cystic fibrosis (CF) who had a late diagnosis of CF (LD-CF) despite newborn screening (NBS) and compare their clinical outcomes with children diagnosed after a positive NBS (NBS-CF). A retrospective review of patients with LD-CF in New South Wales, Australia, from 1988 to 2010 was performed. LD-CF was defined as NBS-negative (negative immunoreactive trypsinogen or no F508del) or NBS-positive but discharged following sweat chloride < 60 mmol/L. Cases of LD-CF were each matched 1:2 with patients with NBS-CF for age, sex, hospital, and exocrine pancreatic status. A total of 45 LD-CF cases were identified (39 NBS-negative and 6 NBS-positive) with 90 NBS-CF matched controls. Median age (IQR) of diagnosis for LD-CF and NBS-CF was 1.35 (0.4-2.8) and 0.12 (0.03-0.2) years, respectively (P <.0001). Estimated incidence of LD-CF was 1 in 45 000 live births. Compared with NBS-CF, LD-CF had more respiratory manifestations at time of diagnosis (66% vs 4%; P <.0001), a higher rate of hospital admission per year for respiratory illness (0.49 vs 0.2; P = .0004), worse lung function (forced expiratory volume in 1 second percentage of predicted, 0.88 vs 0.97; P = .007), and higher rates of chronic colonization with Pseudomonas aeruginosa (47% vs 24%; P = .01). The LD-CF cohort also appeared to be shorter than NBS-CF controls (mean height z-score -0.65 vs -0.03; P = .02). LD-CF, despite NBS, seems to be associated with worse health before diagnosis and worse later growth and respiratory outcomes, thus providing further support for NBS programs for CF.
OBJECTIVESTo evaluate children with cystic fibrosis (CF) who had a late diagnosis of CF (LD-CF) despite newborn screening (NBS) and compare their clinical outcomes with children diagnosed after a positive NBS (NBS-CF).STUDY DESIGNA retrospective review of patients with LD-CF in New South Wales, Australia, from 1988 to 2010 was performed. LD-CF was defined as NBS-negative (negative immunoreactive trypsinogen or no F508del) or NBS-positive but discharged following sweat chloride < 60 mmol/L. Cases of LD-CF were each matched 1:2 with patients with NBS-CF for age, sex, hospital, and exocrine pancreatic status.RESULTSA total of 45 LD-CF cases were identified (39 NBS-negative and 6 NBS-positive) with 90 NBS-CF matched controls. Median age (IQR) of diagnosis for LD-CF and NBS-CF was 1.35 (0.4-2.8) and 0.12 (0.03-0.2) years, respectively (P <.0001). Estimated incidence of LD-CF was 1 in 45 000 live births. Compared with NBS-CF, LD-CF had more respiratory manifestations at time of diagnosis (66% vs 4%; P <.0001), a higher rate of hospital admission per year for respiratory illness (0.49 vs 0.2; P = .0004), worse lung function (forced expiratory volume in 1 second percentage of predicted, 0.88 vs 0.97; P = .007), and higher rates of chronic colonization with Pseudomonas aeruginosa (47% vs 24%; P = .01). The LD-CF cohort also appeared to be shorter than NBS-CF controls (mean height z-score -0.65 vs -0.03; P = .02).CONCLUSIONSLD-CF, despite NBS, seems to be associated with worse health before diagnosis and worse later growth and respiratory outcomes, thus providing further support for NBS programs for CF.
Author Coffey, Michael J., BMed, MD
Wilcken, Bridget, MD, FRACP
Gaskin, Kevin J., MD, FRACP
Shalhoub, Carolyn, BSc(Hons), GradDip(Counselling)
Ooi, Chee Y., MBBS, FRACP, PhD
Gentin, Natalie, MBBCh, FRACP
Nightingale, Scott, BMed(Hons), MClinEpid, FRACP
Hilton, Jodi, BMed, FRACP
Wiley, Veronica, PhD
Whitaker, Viola
Junek, Rosie, DCH
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/27837951$$D View this record in MEDLINE/PubMed
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Keywords Forced expiratory volume in 1 second percentage of predicted
New South Wales
PS
CF transmembrane conductance regulator
Immunoreactive trypsinogen
IRT
CFSPID
SC
Body mass index
lung function
LD-CF
Newborn screening
Pancreatic sufficient
MI
NBS
BMI
CF
CF screen positive inconclusive diagnosis
Cystic fibrosis
LD-NBS-pos
Late diagnosis newborn screen positive
LD-NBS-neg
Pancreatic insufficient
Sweat chloride
Late diagnosis newborn screen negative
NBS-CF
NSW
Late diagnosis of cystic fibrosis
cystic fibrosis transmembrane conductance regulator
Newborn screen diagnosed CF
PI
growth
FEV1
Australia
CFTR
Meconium ileus
Language English
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Snippet Objectives To evaluate children with cystic fibrosis (CF) who had a late diagnosis of CF (LD-CF) despite newborn screening (NBS) and compare their clinical...
To evaluate children with cystic fibrosis (CF) who had a late diagnosis of CF (LD-CF) despite newborn screening (NBS) and compare their clinical outcomes with...
OBJECTIVESTo evaluate children with cystic fibrosis (CF) who had a late diagnosis of CF (LD-CF) despite newborn screening (NBS) and compare their clinical...
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Publisher
StartPage 137
SubjectTerms Age Factors
Australia
Cystic Fibrosis - diagnosis
Cystic Fibrosis - mortality
Cystic Fibrosis - therapy
cystic fibrosis transmembrane conductance regulator
Databases, Factual
Delayed Diagnosis - adverse effects
Disease Progression
Female
growth
Hospitalization - statistics & numerical data
Humans
Infant, Newborn
lung function
Male
Neonatal Screening - methods
New South Wales
Outcome Assessment (Health Care)
Pediatrics
Prognosis
Respiratory Function Tests
Retrospective Studies
Risk Assessment
Severity of Illness Index
Sex Factors
Survival Rate
Title Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era
URI https://www.clinicalkey.es/playcontent/1-s2.0-S0022347616311787
https://dx.doi.org/10.1016/j.jpeds.2016.10.045
https://www.ncbi.nlm.nih.gov/pubmed/27837951
https://search.proquest.com/docview/1839123961
Volume 181
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